COXFA4L3: Cytochrome c Oxidase Subunit FA4 Like 3
A nuclear-encoded mitochondrial complex IV assembly factor with potential roles in oxidative phosphorylation and cellular energy metabolism.
Gene Information Card
| Symbol | COXFA4L3 |
|---|---|
| Full Name | Cytochrome c Oxidase Subunit FA4 Like 3 |
| Gene Type | Protein coding |
| Chromosomal Location | 1q42.13 |
| NCBI Gene ID | 100130449 ncbi.nlm.nih.gov/gene/100130449 |
| Ensembl ID | ENSG00000203811 |
| UniProt ID | A0A1B0GTV5 |
| OMIM ID | Not assigned |
| HGNC ID | HGNC:44270 |
| Aliases | COX4L3, COX4-like 3, MGC16384 |
Description
COXFA4L3 is a nuclear gene encoding a protein that is structurally similar to cytochrome c oxidase subunit FA4 (COX4). It is predicted to be involved in the assembly or regulation of mitochondrial complex IV (cytochrome c oxidase), the terminal enzyme of the electron transport chain. Expression data suggest a role in tissues with high oxidative demand, though functional validation is limited.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Mitochondrial complex IV deficiency | Potential role in COX assembly; loss-of-function may impair respiration | Inferred from homology; no direct ClinVar entry |
| Cancer (general) | Altered expression may affect metabolic reprogramming | COSMIC mutation data available |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 5.2 | Medium |
| Skeletal Muscle | 4.8 | Medium |
| Liver | 2.1 | Low |
| Brain | 1.9 | Low |
| Kidney | 3.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 3.5 | Moderate expression |
| HEK293 | 4.0 | Moderate expression |
| K562 | 1.2 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.123C>T (p.Arg41Trp) | Missense | <0.01% | Unknown; predicted possibly damaging |
| c.456_457del (p.Gln153fs) | Frameshift | <0.01% | Likely loss of function |
Mutation functional classification
Loss of Function (LOF)
Frameshift mutations likely lead to truncated protein and loss of COX assembly function.
Gain of Function (GOF)
No evidence for gain-of-function mutations.
Dominant Negative (DN)
Not reported.
View complete mutation data：
Gene Ontology (GO)
| • mitochondrion (GO:0005739) | • mitochondrial respiratory chain complex IV (GO:0005751) |
| • mitochondrial electron transport, cytochrome c to oxygen (GO:0006123) |
Pathways
• Oxidative phosphorylation (KEGG: hsa00190)
• Respiratory electron transport (Reactome: R-HSA-611105)
Protein Summary
COXFA4L3 is a 169-amino acid protein predicted to localize to the mitochondrial inner membrane. It shares sequence similarity with COX4I1, a bona fide subunit of cytochrome c oxidase. While its exact biochemical role remains unclear, it is hypothesized to act as an assembly factor or regulatory subunit of complex IV, influencing mitochondrial respiration efficiency.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| COXFA4L3 Knockout HEK293 Cell Line | EDJ-KQ11948 | Human | 84419 | Details Get a Quote |
| COXFA4L3 Knockout A-549 Cell Line | EDJ-KQ41753 | Human | 84419 | Details Get a Quote |
| COXFA4L3 Knockout THP-1 Cell Line | EDJ-KZ124 | Human | 84419 | Details Get a Quote |
| Coxfa4l3 Knockout RAW 264.7 Cell Line | EDJ-KZ129 | Mouse | 433470 | Details Get a Quote |
| COXFA4L3 Knockout HeLa Cell Line | EDJ-KQ57591 | Human | 84419 | Details Get a Quote |
| COXFA4L3 Knockout HCT 116 Cell Line | EDJ-KQ74509 | Human | 84419 | Details Get a Quote |
